Varaico: Literature-Extracted Genetic Variants

PER2

208 papers

RefSeq Summary

This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family...

Pfam Domains

bHLH_PERaa 104–163UCSCPeriod circadian protein homolog bHLH-like domain

Per3-like_PAS-Aaa 191–315UCSCPeriod circadian protein homolog 3-like, PAS-A domain

PAS_3aa 343–432UCSCPAS fold

Period_Caa 1046–1208UCSCPeriod circadian-like, C-terminal

Gene Aliases

HGNC Name

period circadian regulator 2

HGNC Alias Symbol

KIAA0347

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_022817.3

p.G1244E

c.3731G>A

Surrounding Variants

1 paper

NM_022817.3

p.P1246delFs

c.3738delG

1 paper

NM_022817.3

p.L1247*

c.3740T>A

3 papers

NM_022817.3

p.P1228A

c.3682C>G

1 paper

NM_022817.3

p.K1214N

c.3642G>T

1 paper

NM_022817.3

p.K1214N

c.3642G>C

1 paper

NM_022817.3

p.A1206A

c.3618A>G

3 papers

NM_022817.3

p.V1205M

c.3613G>A

1 paper

NM_022817.3

p.D1204D

c.3612C>T

1 paper

NM_022817.3

p.F1179L

c.3537C>G

1 paper

NM_022817.3

p.F1179L

c.3537C>A

1 paper

NM_022817.3

p.F1179L

c.3535T>C

1 paper

NM_022817.3

p.L1153del1

c.3457_3458delCAG